Monday, June 30, 2014

Well, another big week in our lives. Honestly, the big weeks have been coming fast and furious! I would be OK with a little respite to be honest, but with a big trip to Boston coming up later this week it looks like it will be mid-July before we have a "normal" week again!

This week, we had the announcement of the exciting results from Vertex's latest Phase III clinical trial. This was a test of a combination of two of their drugs (Ivacaftor and Lumacaftor) in patients with two copies of the F508del mutation (the most common mutation that causes cystic fibrosis; about 50% of patients have two copies of this mutation). After 24 weeks on the drug, patients saw a statistically significant improvement in an important measure of lung function. Although the magnitude of the effect was small, I still think this is a tremendously exciting result since this combination of drugs hits the root cause of CF, and doesn't just treat the symptoms or downstream consequences. This combination of drugs will almost certainly not help Lemon directly, since he only has one copy of the F508del mutation and one copy of a different mutation. But, Vertex has other drug combinations in the pipeline that could help him. I'm really hopeful that by the time he's old enough to use any of the drugs (right now, the youngest patients using them are 12), there will be a good cocktail ready for him to take. It's important to point out that the CF drug development at Vertex is directly supported by the Cystic Fibrosis Foundation, to the tune of $75 million, so for those of you who have supported our various fundraising efforts, this is your money at work--it is gratifying to see such concrete results, I think!

Here is Lemon, using a brand new skill acquired this week to show everyone what he thinks of the Vertex results:

Also this week, our dear friend Sheryl visited us from Boston. Having two little boys of her own, she knows exactly what to do with a baby boy, and that was evident from the moment she walked in the door. Lemon immediately gravitated towards her and wanted to watch her and talk to her the entire time she was here.

We also had a very fun belated Mother's Day brunch with Nona, courtesy of Uncle Jared who gave us a nice gift certificate. After brunch we still had time for a visit to the nearby park, where we played one of Lemon's favorite games, in which Lemon swings and Mama Bear pretends to be afraid that Lemon is about to collide with her. Hysterical laughter follows.

On Sunday, we went to a work event at a local park that has a splash pad. This is basically the super upgraded, on steroids version of the running through lawn sprinklers that Uncle Jared and I did as kids. Lemon was absolutely beside himself with delight, since it combines two of his favorite elements, fountains and watching other kids. After about 15 minutes at the splash pad, he was so overwhelmed that he fell asleep in the car on the 8 minute ride home, slept an additional 90 minutes after we brought him into the house, woke up, ate something, went back to sleep and slept a further 90 minutes, woke up again, ate something, and went back to bed for the night within the hour.

Speaking of splash pads, check out what the wacky weather of the Midwest did to our street this evening! Our basement got a little wet and Papa Bear got trapped at work for an extra hour, but otherwise we are unscathed (knock on wood, since the thunder is still rolling out there as I write!).

Monday, June 23, 2014

In case we didn't have enough going on at the beginning of this week with Lemon's pulmonary function test (results came back great, yay!), on Friday we left home on our biggest road trip yet--a 300 mile drive from our house to Duluth, MN, where my good buddy Norm and I were scheduled to run a marathon (my first one in almost 14 years). We packed up what seemed like every single thing in our entire house: portable crib, portable booster seat, baby foods, bowls, spoons, cups, medicines, PT equipment, diapers, wipes, blankets, and a few other essentials like running shoes, and hit the road as Lemon was ready to go down for his morning nap. We hadn't done a long drive with him in a while, so we were a little nervous as to how it would go.

Luckily for us, Lemon is an absolute champ at car travel. Aside from a few short stops for meals, we drove pretty much straight through with very little protest. We went to the pre-race expo at a convention center to pick up my race bib, and then headed out to a little cabin right on a small lake where we were staying. Norm met up with us there, and we had a chance to discuss our race strategy, which was largely based on this brilliant set of illustrations from the Oatmeal. We had dinner together at the cabin, set our alarms for 4 a.m., and went to bed.

At 4 a.m., we got up, had our favorite breakfast of egg sandwiches and some "delicious" Folger's coffee and headed in to the convention center again to catch the bus to the start of the race. We got to the starting area about an hour and a half before the gun, and it was about 45F and totally fogged in. We were freezing, so we found a little shed where we sort of hid with one of the elite runners (we think he was actually allowed to be in there, whereas we tried our best to blend in with the woodwork).

The race had color-coded flags to indicate the risk of heat exhaustion, with green being "low" risk and red being "high" risk. All day during the race we were seeing white flags ("risk of hypothermia"). It was hard to believe that it was really June, although the weather suited me and Norm perfectly since we both really suffer when it gets hot. The only slight trouble with the weather was that because of all the fog, we hardly saw Lake Superior at all, even though we ran along its shore for probably 20 miles. We caught a few quick glimpses of the shoreline every now and again, but not the open water panoramas that I had imagined. The course was still very beautiful, though, with the thick woods on one side and a big white fog bank on the other.

Our race was just textbook. Although we weren't setting any land speed records by any means, we were absolutely in control of the race the whole time. We ran at a very consistent pace, and actually ran the second half of the race a little faster than the first half, picking off lots of people along the way. This is in spite of (probably because of) the fact that we walked through most of the water stops, made a bathroom stop, drank coffee and beer that were handed out by spectators, and had a number of good laughs along the way. My time was only 6 minutes slower than the race I ran 14 years ago, and this was by far a higher quality run. You can see a video of our finish here (Norm is in the green short-sleeve shirt, and I'm in the white tank), and it's representative of the entire race--we were matching each other stride for stride, never separated by more than 18 inches. If you're going to run a marathon, I highly recommend this approach!

After cruising across the finish line, we hobbled/staggered for almost a mile back to Norm's car, and headed back to the cabin where Papa Bear and Lemon were waiting for us. We had a nice lazy afternoon and evening with them, where Norm and I spent a surprising amount of time discussing when our next marathon will be.

The next morning, Norm headed home to Boston, while Papa Bear, Lemon, and I went back into Duluth. Originally, we thought we would take a boat cruise on Lake Superior, but it was still just as foggy as the day before, so we opted for the Great Lakes Aquarium instead.

It has a lot of nice exhibits and tanks set up at just the right height for Lemon to get eyeball to eyeball with a sturgeon.

Finally, today we drove back home. I was glad we took an extra day in Duluth for me to recover before attempting the drive back. About 25% of the total miles on our car are accounted for by this one trip. Wisconsin is a huge state--of the 5.5 hours it takes to drive from our house to Duluth, all but the last 15 minutes or so of the trip are within the state. It is really beautiful, though, and I look forward to exploring it!

Tuesday, June 17, 2014

Today we had an infant pulmonary function test. This has been on the calendar since the great April plague. The doctor we saw then (not Lemon's usual doctor) thought it would be a good idea to thoroughly check how his lungs are doing, since lung function deficits can be really hard to pick up in infants during a regular clinical exam. I asked Lemon's regular doctor, and he too thought it would be a good idea. I was a little hesitant since the test itself is a pretty big deal, and Lemon's health has generally been very good, but since both doctors agreed that it would be useful, we decided to go along with their recommendation.

The reason the test is a big deal is that, whereas older children and adults can follow instructions about when to breathe in and out and so forth to test their lung function, infants can't. So, instead, the infant has to be sedated, and then hooked up to an instrument that can execute all the desired breathing actions for the baby. Our hospital has an nSpire Infant Pulmonary Lab, which you can read more about here if you like.

We were told that to prepare Lemon for the sedation, it would be a good idea for him to be really tired (about 3-4 hours sleep deficit). So, we kept him up until almost 8:30 on Monday night, about 2 hours past his usual bed time. We basically kept him up until he was doing nothing but lying down on the floor and closing his eyes, at which point we put him in the crib. Then, we got our things organized for an early departure, and went to bed. At around 11pm, a violent thunderstorm began which woke me up (not Lemon or Papa Bear, though!). At about midnight, the tornado sirens started going. At that point, I woke Papa Bear, we grabbed Lemon, and headed for the basement until the sirens went quiet again. Of course, by then it was after 1 a.m. and my alarm was set for 4:30, so I basically just dozed off and on the remainder of the night as the rest of the storm system passed through.

At 4:30, I woke Lemon up and he and I played and did PT in the pre-dawn hours. He was in amazingly good spirits for having gotten very little sleep and no breakfast. At 6:45, we got in the car, with Papa Bear in the back seat to make sure Lemon didn't fall asleep en route, and headed to the hospital, arriving right on time for our 7 a.m. appointment in the sedation clinic. They weighed and measured Lemon, and then we waited. And waited. And waited. Luckily Nona was there to keep us company, and to remind me of more songs that we could sing to keep Lemon amused. Lemon continued to be in an incredibly good mood given the state of affairs, laughing and smiling with the nurses whenever they came to check on him.

Finally at around 8:30 we were told that the equipment was ready for Lemon's test and that he could be sedated. A nurse gave him the medication, and he basically fell asleep instantly. Then we waited a little more, and then carried him into the next room where he was placed in the chamber of the machine. About two hours after our arrival, we were finally ready to start the test.

Unfortunately, although we humans were ready, the machine had other ideas. In spite of having a clean calibration run before we put Lemon in, as soon as the techs tried to get it to actually run the test protocols, it became clear that there was an air leak somewhere, and they weren't getting any accurate readings. Hilarity ensued, involving the phrase "Does anyone here have a portable telephone?" A call was placed to the company that makes the machine, and they tried this and that with tech support on the line to no avail. At this point we'd wasted about 45 minutes which was a big problem, because the sedation only lasts about 90 minutes typically, and the test is supposed to take about an hour. So, the more time we wasted, the greater the chances were that Lemon would wake up before the end of the test, and the doctors wouldn't get the lung function data they wanted. In my sleep deprived state, I really couldn't handle the idea of not getting the data we wanted and having to repeat the whole thing sometime down the road.
Fortunately, one of the things the techs did finally worked, and they got a few good readings. Then things broke down again, and they had to disconnect the mask while they fiddled around with one more piece of tubing. I think over the course of our test, they replaced every tube on the whole machine at least twice.

Eventually, though, we were off to the races. Luckily for everyone, Lemon gets his sleeping abilities from Papa Bear's side of the family. So, even though the test wasn't completed until almost two hours after he'd been sedated, Lemon remained sound asleep through the whole thing, including having a vest kind of like a giant blood pressure cuff placed around his chest and inflated really hard repeatedly. Amazing.

Once all the data had been collected, we went back to the sedation room to wait for Lemon to wake up--true to form he stayed asleep for almost another full hour, in spite of the nurses sort of poking at him to try and get him up. Once he was up, he was in his usual sunny little mood, smiling and chirping at everyone he saw. Eventually they let us go home, where Lemon ate a giant meal, took another significant nap, and was ready to resume his regularly scheduled activities of cruising around along the edges of the furniture and throwing things on the floor. After all that we still don't know the results of the test--the techs who administer it aren't allowed to interpret the results, so we are waiting for a call from the pulmonologist with the interpretation. More next week.

Monday, June 9, 2014

Lemon has continued to make big developmental strides, getting more proficient at his own unique crawling method, which involves propelling himself forward using the sole of his left foot and the knee of his right leg in a sort of crawl/hop combination. He's also gotten very good at pulling up, which makes me think cruising and walking aren't that far away. Since his other latest development is a habit of waking up at 5 a.m. every day, I'm going to keep this week's post relatively short so that I can get some sleep.

This past weekend we went to visit a botanical garden in Madison. It was really beautiful, although Lemon couldn't have cared less about the plants. He did discover his new greatest passion though: fountains! Here are some of the fountains that we saw:

There was also a Thai pagoda, the only one of its kind in the contiguous 48 states according to the sign. Although it is almost entirely covered in real gold leaf, Lemon wasn't all that impressed. Compared to the thrill of moving water in the fountains, it just didn't have that much to offer.

﻿

After all the exciting things we do during the day, and all the motoring around that Lemon is doing now, you would think that he'd be happy to take a little rest now and again. Instead, he's realized that just because he's in the crib doesn't mean he has to be asleep, or even lying down...

Monday, June 2, 2014

This week was a big one for Lemon and me in terms of getting the word out about CF. On Thursday, Lemon and I went to give a presentation at a local biotech company. The company hosts its own walk to raise money for CF every year, and this year they contacted our local CF Foundation office to see if someone local would be interested in coming in to do a "lunch and learn" seminar on CF. For reasons I can't begin to imagine (ahem) when the local office heard "biotech" they thought of "Mama Bear." Funny how that works.

Lemon and I had a blast at the company. I gave a 15 minute presentation split between the biology of CF and the story of our little family. Amazingly, throughout the whole presentation, Lemon sat on the floor at my feet, contentedly examining his toys. When I opened things up for questions at the end of the presentation, the first question I got was "How do you get him to sit so quietly like that?" Needless to say, he was a big hit and hopefully a good inspiration to all the generous people there who are taking the time to raise money for CF research.

Speaking of fundraising, how about a tremendous thank you to everyone who supported our Cycle for Life team this year! Thanks to all of you, we were the #3 fundraising team in Madison this year, with Papa Bear and myself in the top 5 individual fundraisers as well. Your generosity means so much to us, since the research you are supporting is the only way that Lemon and all his fellow CF patients can hope for a healthy future.

The ride itself was a great event. Opa and I rode to represent our team, since Papa Bear was at a conference. We checked in at registration, schmoozed with some of our fellow cyclists, and then got ready to ride out behind a fire truck.

The route was just lovely--I feel a little spoiled riding here knowing that back in Boston you'd have to ride all day just to get far enough out of town to experience the glorious rural landscapes that are a mere 10-12 miles from my house. Contrary to popular opinion, Wisconsin is not actually flat--there a couple of hills big enough to draw one's attention!

We also had the support of some great volunteers along the way, including an exceptionally well-staffed rest stop.

Some cool refreshments awaited us at the end.

After enjoying a restorative beverage, we headed home where Lemon was waiting with Nona. It was the perfect end to a great ride.

I look forward to doing this event every year, and have lots of ambitions for next year--becoming a team of 5 instead of 3 (maybe we will finally make some friends?), becoming the #1 fundraising team, having matching jerseys, a business sponsor, so on and so forth. Right now, though, I need to refocus my energies because believe it or not I'm running a marathon in 3 weeks! Yikes, that came up fast...